Variant report

Variant	rs2326643
Chromosome Location	chr6:5552222-5552223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5549888..5552504-chr6:5555146..5558122,2	K562	blood:
2	chr6:5549888..5553907-chr6:5554178..5558122,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2326644	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875998	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6934050	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6937827	0.84[ASN][1000 genomes]
rs7752167	0.82[AMR][1000 genomes]
rs9328312	0.82[AMR][1000 genomes]
rs9328313	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9378965	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv883420	chr6:5524393-5584422	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv5181	chr6:5536921-5581595	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv600887	chr6:5545046-5694713	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
2	chr6:5536800-5553000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:5538000-5573600	Weak transcription	Left Ventricle	heart
4	chr6:5542600-5555400	Weak transcription	Gastric	stomach
5	chr6:5545200-5556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:5545400-5560000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:5546200-5555800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:5550800-5552600	Weak transcription	Esophagus	oesophagus
9	chr6:5550800-5552600	Weak transcription	Lung	lung
10	chr6:5550800-5554800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:5550800-5563400	Weak transcription	Pancreas	Pancrea
12	chr6:5550800-5564600	Weak transcription	Dnd41	blood
13	chr6:5551000-5552800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:5551000-5554000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:5551000-5555000	Weak transcription	HSMMtube	muscle
16	chr6:5551000-5556800	Weak transcription	Ovary	ovary
17	chr6:5551000-5566000	Weak transcription	Primary T cells from cord blood	blood
18	chr6:5551000-5566200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:5551200-5552400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:5551200-5554200	Weak transcription	HepG2	liver
21	chr6:5551400-5552400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:5551600-5552400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:5551600-5553200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:5551600-5575200	Weak transcription	Primary B cells from cord blood	blood
25	chr6:5552200-5552600	Enhancers	Adipose Nuclei	Adipose

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